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    CDH7 cadherin 7 [ Homo sapiens (human) ]

    Gene ID: 1005, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CDH7provided by HGNC
    Official Full Name
    cadherin 7provided by HGNC
    Primary source
    HGNC:HGNC:1766
    See related
    Ensembl:ENSG00000081138 MIM:605806; AllianceGenome:HGNC:1766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDH7L1
    Summary
    This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CDH7 in Genome Data Viewer
    Location:
    18q22.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (65750252..65890337)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (65956460..66096655)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (63417488..63557573)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1916 Neighboring gene uncharacterized LOC105372169 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:63231174-63232373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:63287142-63287684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:63287685-63288227 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:63326730-63327929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:63418189-63418690 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:63547268-63548467 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:63573697-63574260 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:63574261-63574822 Neighboring gene uncharacterized LOC105372170 Neighboring gene PRPF19 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Common variants in the CDH7 gene are associated with major depressive disorder in the Han Chinese population. Li X, et al. Behav Genet, 2014 Mar. PMID 24554215
    2. Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration. Winklmeier A, et al. Cancer Sci, 2009 Feb. PMID 19200257, Free PMC Article
    3. Cadherins and neuropsychiatric disorders. Redies C, et al. Brain Res, 2012 Aug 27. PMID 22765916
    4. Involvement of cadherins 7 and 20 in mouse embryogenesis and melanocyte transformation. Moore R, et al. Oncogene, 2004 Sep 2. PMID 15273735
    5. Characterization of three novel human cadherin genes (CDH7, CDH19, and CDH20) clustered on chromosome 18q22-q23 and with high homology to chicken cadherin-7. Kools P, et al. Genomics, 2000 Sep 15. PMID 10995570

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our results support CDH7 to be a risk factor of major depressive disorder in the Han Chinese population
      Title: Common variants in the CDH7 gene are associated with major depressive disorder in the Han Chinese population.
    2. Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration.
      Title: Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. During oncogenesis, cadherin-7, N-cad and E-cad could be used as an efficient marker set for melanoma.
      Title: Involvement of cadherins 7 and 20 in mouse embryogenesis and melanocyte transformation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    EBI GWAS Catalog
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cadherin-7
    Names
    cadherin 7, type 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001317214.3 → NP_001304143.1  cadherin-7 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant b. This results in a novel 3' coding region and 3' UTR, compared to variant b. The encoded isoform has a shorter and distinct C-terminus compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC023394, AC090358
      Consensus CDS
      CCDS82259.1
      UniProtKB/TrEMBL
      F5H5X9, Q8IY78
      Related
      ENSP00000443030.2, ENST00000536984.6
      Conserved Domains (2) summary
      cd11304
      Location:157 → 258
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:73 → 151
      CA; Cadherin repeats

    2. NM_001362438.2 → NP_001349367.1  cadherin-7 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) differs in the 5' UTR compared to variant b. Variants a, b and d encode the same isoform (1).
      Source sequence(s)
      AC023394, AC090358
      Consensus CDS
      CCDS11993.1
      UniProtKB/Swiss-Prot
      Q9H157, Q9ULB5
      Conserved Domains (3) summary
      cd11304
      Location:157 → 258
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:73 → 151
      CA; Cadherin repeats
      pfam01049
      Location:631 → 779
      Cadherin_C; Cadherin cytoplasmic region

    3. NM_004361.5 → NP_004352.2  cadherin-7 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_004352.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) represents the longest transcript and encodes the longer isoform (1). Variants a, b and d encode the same isoform (1).
      Source sequence(s)
      AC023394, AC090358
      Consensus CDS
      CCDS11993.1
      UniProtKB/Swiss-Prot
      Q9H157, Q9ULB5
      Related
      ENSP00000381058.2, ENST00000397968.4
      Conserved Domains (3) summary
      cd11304
      Location:157 → 258
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:73 → 151
      CA; Cadherin repeats
      pfam01049
      Location:631 → 779
      Cadherin_C; Cadherin cytoplasmic region

    4. NM_033646.4 → NP_387450.1  cadherin-7 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_387450.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) differs in the 5' UTR compared to variant b. Variants a, b and d encode the same isoform (1).
      Source sequence(s)
      AC023394, AC090358
      Consensus CDS
      CCDS11993.1
      UniProtKB/Swiss-Prot
      Q9H157, Q9ULB5
      Related
      ENSP00000319166.3, ENST00000323011.7
      Conserved Domains (3) summary
      cd11304
      Location:157 → 258
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:73 → 151
      CA; Cadherin repeats
      pfam01049
      Location:631 → 779
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      65750252..65890337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      65956460..66096655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULB5.2 GenPept UniProtKB/Swiss-Prot:Q9ULB5

    Gene LinkOut

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